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Isolated Echogenic Cardiac Focus: Assessing Association with Trisomy 21 by Combining Results from a Prenatal Center with a Bayesian Meta-Analysis
Objective To investigate the clinical relevance of an isolated echogenic cardiac focus (iECF) as a marker for trisomy 21 using a large second-trimester collective including a low-risk subgroup. Materials and Methods We retrospectively evaluated 1 25 211 pregnancies from 2000–2016 and analyzed all iE...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
© Georg Thieme Verlag KG
2019
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7062549/ https://www.ncbi.nlm.nih.gov/pubmed/32159071 http://dx.doi.org/10.1055/a-1118-3974 |
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author | Wrede, Elisabeth Knippel, Alexander Johannes Verde, Pablo Emilio Hammer, Ruediger Kozlowski, Peter |
author_facet | Wrede, Elisabeth Knippel, Alexander Johannes Verde, Pablo Emilio Hammer, Ruediger Kozlowski, Peter |
author_sort | Wrede, Elisabeth |
collection | PubMed |
description | Objective To investigate the clinical relevance of an isolated echogenic cardiac focus (iECF) as a marker for trisomy 21 using a large second-trimester collective including a low-risk subgroup. Materials and Methods We retrospectively evaluated 1 25 211 pregnancies from 2000–2016 and analyzed all iECF cases with regard to chromosomal anomalies. It consisted of an early second-trimester collective from 14+0−17+6 weeks (n=34 791) and a second-trimester anomaly scan collective from 18+0–21+6 weeks. Two a priori risk subgroups (high and low risk) of the latter were built based on maternal age and previous screening test results using a cut-off of 1:300. Likelihood ratios (LR) of iECF for the detection of trisomy 21, trisomy 13, trisomy 18 and structural chromosomal anomalies were estimated. Results In total, 1 04 001 patients were included. An iECF was found in 4416 of 1 02 847 euploid fetuses (4.29%) and in 64 of 557 cases with trisomy 21 (11.49%) giving a positive LR of 2.68 (CI: 2.12–3.2). The sensitivity was 11.5% at a false-positive rate of 4.29% (CI:4.17–4.42) with p≤0.01%. In the high-and low-risk subgroups, the prevalence of iECF was comparable: 5.08% vs. 5.05%. The frequency of trisomy 21 was 0.39%, 98/24 979 vs 0.16%, 69/44 103. LR+was 3.86 (2.43–5.14) and 2.59 (1.05–4). For both subgroups the association of iECF with trisomy 21 was statistically significant. The prevalence of structural chromosomal anomalies in the second-trimester anomaly scan collective was 0.08% (52/68 967), of which 2 showed an iECF. Conclusion The detection of an iECF at the time of 14+0–21+6 weeks significantly increases the risk for trisomy 21 in the high-risk and in the low-risk subgroups and does not statistically change the risks for trisomy 13/18 or structural abnormalitie. |
format | Online Article Text |
id | pubmed-7062549 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | © Georg Thieme Verlag KG |
record_format | MEDLINE/PubMed |
spelling | pubmed-70625492020-03-10 Isolated Echogenic Cardiac Focus: Assessing Association with Trisomy 21 by Combining Results from a Prenatal Center with a Bayesian Meta-Analysis Wrede, Elisabeth Knippel, Alexander Johannes Verde, Pablo Emilio Hammer, Ruediger Kozlowski, Peter Ultrasound Int Open Objective To investigate the clinical relevance of an isolated echogenic cardiac focus (iECF) as a marker for trisomy 21 using a large second-trimester collective including a low-risk subgroup. Materials and Methods We retrospectively evaluated 1 25 211 pregnancies from 2000–2016 and analyzed all iECF cases with regard to chromosomal anomalies. It consisted of an early second-trimester collective from 14+0−17+6 weeks (n=34 791) and a second-trimester anomaly scan collective from 18+0–21+6 weeks. Two a priori risk subgroups (high and low risk) of the latter were built based on maternal age and previous screening test results using a cut-off of 1:300. Likelihood ratios (LR) of iECF for the detection of trisomy 21, trisomy 13, trisomy 18 and structural chromosomal anomalies were estimated. Results In total, 1 04 001 patients were included. An iECF was found in 4416 of 1 02 847 euploid fetuses (4.29%) and in 64 of 557 cases with trisomy 21 (11.49%) giving a positive LR of 2.68 (CI: 2.12–3.2). The sensitivity was 11.5% at a false-positive rate of 4.29% (CI:4.17–4.42) with p≤0.01%. In the high-and low-risk subgroups, the prevalence of iECF was comparable: 5.08% vs. 5.05%. The frequency of trisomy 21 was 0.39%, 98/24 979 vs 0.16%, 69/44 103. LR+was 3.86 (2.43–5.14) and 2.59 (1.05–4). For both subgroups the association of iECF with trisomy 21 was statistically significant. The prevalence of structural chromosomal anomalies in the second-trimester anomaly scan collective was 0.08% (52/68 967), of which 2 showed an iECF. Conclusion The detection of an iECF at the time of 14+0–21+6 weeks significantly increases the risk for trisomy 21 in the high-risk and in the low-risk subgroups and does not statistically change the risks for trisomy 13/18 or structural abnormalitie. © Georg Thieme Verlag KG 2019-11 2020-03-09 /pmc/articles/PMC7062549/ /pubmed/32159071 http://dx.doi.org/10.1055/a-1118-3974 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited. |
spellingShingle | Wrede, Elisabeth Knippel, Alexander Johannes Verde, Pablo Emilio Hammer, Ruediger Kozlowski, Peter Isolated Echogenic Cardiac Focus: Assessing Association with Trisomy 21 by Combining Results from a Prenatal Center with a Bayesian Meta-Analysis |
title | Isolated Echogenic Cardiac Focus: Assessing Association with Trisomy 21 by Combining Results from a Prenatal Center with a Bayesian Meta-Analysis |
title_full | Isolated Echogenic Cardiac Focus: Assessing Association with Trisomy 21 by Combining Results from a Prenatal Center with a Bayesian Meta-Analysis |
title_fullStr | Isolated Echogenic Cardiac Focus: Assessing Association with Trisomy 21 by Combining Results from a Prenatal Center with a Bayesian Meta-Analysis |
title_full_unstemmed | Isolated Echogenic Cardiac Focus: Assessing Association with Trisomy 21 by Combining Results from a Prenatal Center with a Bayesian Meta-Analysis |
title_short | Isolated Echogenic Cardiac Focus: Assessing Association with Trisomy 21 by Combining Results from a Prenatal Center with a Bayesian Meta-Analysis |
title_sort | isolated echogenic cardiac focus: assessing association with trisomy 21 by combining results from a prenatal center with a bayesian meta-analysis |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7062549/ https://www.ncbi.nlm.nih.gov/pubmed/32159071 http://dx.doi.org/10.1055/a-1118-3974 |
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